Carlos Bustamante

TL;DR: The data show strong evidence of effect-size heterogeneity across ancestries for published GWAS associations, which substantially restricts genetically-guided precision medicine and advocate for new, large genome-wide efforts in diverse populations to reduce health disparities.

TL;DR: Simulations and single-nucleotide polymorphism data collected through direct resequencing and genotyping are used and it is found that when estimating the current population size and magnitude of recent growth in an ancestral population using the site frequency spectrum (SFS), it is possible to obtain reasonably accurate estimates of the parameters.

TL;DR: WT and arginine finger mutants of the pentameric bacteriophage φ29 DNA packaging motor are studied to reveal the molecular interactions necessary for the coordination of ADP–ATP exchange and ATP hydrolysis of the motor’s biphasic mechanochemical cycle.

TL;DR: The design of an ongoing randomized trial is described to investigate whether CVD risk factor profiles can be improved by providing participants with knowledge related to their inherited risk of CVD in addition to information on their risk related to measured TRFs.

TL;DR: The requisition form analysis showed substantial heterogeneity in clinical laboratory ascertainment of REA, as well as marked incongruity among terms used to define REA categories, and the need for a standardized REA data collection framework to be developed and adopted across clinical genomics is suggested.